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Talk:Congenital disorders (view source)
Revision as of 06:31, 29 October 2020
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|title=Congenital Disorders
|titlemode=append
|keywords=Congenital disorders,beejadosha,beejabhaga,beejabhaga avayava, genetics, shad garbhakara bhava, garbha, Ayurveda, Indian system of medicine, charak samhita.
|description=Sharira / garbha / congenital disorders
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<div style="text-align:justify;">
The congenital disorders refer to the medical conditions that are present at birth. [[Ayurveda]] groups the congenital disorders in he category of sahaja and jataja vyadhi. [A.S.] These can be the result of genetic abnormalities, the unfavorable intrauterine environment or may be due to some unknown factors. A congenital disorder may be recognized prenatally (before birth), at birth, or sometimes many years later.
Ayurveda emphasizes the proper preparation of the parents as the essential prerequisite for a healthy progeny and prevention of congenital disorders.
</div>
{{Infobox
|title = Contributors
|label1 = Section/Chapter/topic
|data1 = [[Sharira]] /[[Garbha]]/ [[Congenital disorders]]
|label2 = Author
|data2 = Blinded
|label3 = Reviewed by
|data3 = Open for review till November 05, 2020 [[Special:ContactMe|Submit your review remarks/suggestions]]
|label4 = Affiliations
|data4 = Blinded
|label5 = Correspondence email:
|data5 = carakasamhita@gmail.com
|label6 = Date of publication:
|data6 = October 04, 2020
}}
==Causes of congenital disorders==
<div style="text-align:justify;">
The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.
All these causes can be attributed as a defect in any of the six factors (shad bhava) which are the sources of origin of embryo (garbha).
The six factors are,
[[file:Capture_1.PNG|400px|'''Image 1:Six sources of embryo'''|thumb]]
1. Maternal (matruja)
2. Paternal (pitruja)
3. Soul (atmaja)
4. Mind (satvaja)
5. Wholesomeness (satmyaja)
6. Nutritional component (rasaja)
The minor defects will lead to the congenital abnormalities of the fetus and the major defects lead to abortion or the death of the fetus. [Cha. Sa. [[Sharira Sthana]] 4/28-29]
These causes can be broadly classified in relation to
1) Preconception period
2) Antenatal period
3) Intra-partum period
[[file:Capture_2.PNG|500px|'''Image 2:Causes of congenital disorders'''|thumb]]
</div>
== During Preconception Period==
<div style="text-align:justify;">
The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.
The following are the guidelines for selection of an ideal partner as per Ayurveda.
*The partner should be belonging to a different clan(gotra).[ Cha. Sa. [[Sharira Sthana]] 2/3]
*Consanguinity should be avoided.
*Should not have any hereditary disorders or familial traits.
*Should not be suffering from any contagious diseases.
*Should possess attractive physical characters.
*Should not be handicapped.
*Should be healthy and follow good health habits.
*Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]
</div>
===Physical Factors ===
<div style="text-align:justify;">
*Abnormalities of sperm and ovum (beeja) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Defective reproductive physiology (shukra dhatu)of parents.[Cha. Sa. [[Sutra Sthana]] 28/18]
*Defective reproductive anatomy of parents (ashaya dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
*Vitiation of Tridosha[A. H. Sharira Sthana 1/6]
'''Role of reproductive physiology (shukra dhatu) of parents'''
The abnormality (vikruti)or physical deformity (virupata) in the fetus is mentioned among the diseases of vitiated reproductive tissue ([[shukra dhatu]])especially when the vitiated [[vata]] getting lodged in it.[Cha Sa [[Sutra Sthana]] 28/28], [Cha. Sa. [[Chikitsa Sthana]] 28/34]
'''Abnormalities in gamates (beeja dosha)'''
The genetic factors like defects in chromosomes or genes are explained in Ayurvedic classics in the concept of chromosomes/gene (beejabhaga) and genetic material-DNA (beejabhaga avayava). It is explained on the basis of maternal (matruja) and paternal (pitruja) factors.
If the genes in the chromosomes (beejabhaga) which are responsible for the formation of a particular organ get vitiated or mutated (vikruta), this will result in the improper formation of the respective organ.[Cha. Sa. [[Sharira Sthana]] 3/17]
When a woman gets conceived in a state that her ovum (shonita) and uterus (garbhashaya) were not completely vitiated but simply afflicted by the circulating aggravated [[doshas]] because of her improper regimens, one or many of the organs of the fetus which derive from the maternal source get deformed. This is the explanation given for the congenital deformities in organs of maternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30]
The yoni vyapad namely “shandi” is an example for the abnormalities in gametes (beeja dushti) leading to the deformity of anatomical structures (ashaya) in fetus due to affliction of [[vata]] leading to the female progeny with underdeveloped primary and secondary sexual characters [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] which is generally correlated by many scholars with the chromosomal disorder known as “turner syndrome”.
Similarly the defect in the sperm (shukra) in various levels causes deformities related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]
{| class="wikitable"
|-
! !! Vitiated factor !! Outcome !! Possible modern co-relation
|-
|'''Female''' ||Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus (garbhashaya) || female not capable of reproduction (vandhya) || Agenesis of uterus/adnexa leading to infertility
|-
| ||Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya)|| can conceive, but deliver only dead fetuses (putipraja) || Recurrent pregnancy loss due to genetic disorders.
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya) as well as those responsible for developing feminine characters || incomplete female (varta) || Gonadal dysgenesis Eg:-
Turner Syndrome,
Swyer Syndrome
|-
| '''Male''' ||Genes in paternal chromosomes(beejabhaga of shukra), responsible for the production of sperms(shukra) ||sterile male (vandhya) || Male Infertility due to gonadal agenesis
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra)|| offspring dies after delivery (putipraja) || Recurrent pregnancy loss due to genetic disorders
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra) as well as those responsible for developing masculine characters.||incomplete male (trinaputrika) || Gonadal dysgenesis
|}
</div>
<div style="text-align:justify;">
A history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known gene disorders, the severity of X-linked disorders differs in males and females. Gene mutations originate more frequently among males, and the frequency increases with advancing paternal age, particularly implicated are the Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.
{| class="wikitable"
|-
!Pattern of inheritance !! Description !! Example
|-
| X-linked dominant ||•By mutations in genes on the X chromosome.
•In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
•In males, a mutation in the only copy of the gene in each cell causes the disorder.
•In most cases, males experience more severe symptoms of the disorder than females.
||fragile X syndrome
|-
|X-linked recessive || •Caused by mutations in genes on the X chromosome.
•In females, a mutation would have to occur in both copies of the gene to cause the disorder.
•In males, one altered copy of the gene in each cell is sufficient to cause the condition.
•males are affected by X-linked recessive disorders much more frequently than females.
||hemophilia, Fabry disease
|-
|Y-linked || •Caused by mutations in genes on the Y chromosome.
•So, the mutation can only be passed from father to son.
||Y chromosome infertility, some cases of Swyer syndrome
|-
||Autosomal dominant || •One mutated copy of the gene in each cell is sufficient for a person to be affected.
•An affected person can inherit the condition from an affected parent.
•the condition may result from a new mutation in the gene (e, without any family history)
||Huntington disease, Marfan syndrome
|-
||Autosomal recessive ||Both copies of the gene in each cell should have mutations.
•Typically not seen in every generation of an affected family.
||cystic fibrosis, sickle cell disease
|-
||Codominant || •Two different versions (alleles) of a gene are expressed.
•Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
|| ABO blood group, alpha-1 antitrypsin deficiency
|-
|Mitochondrial ||•Also known as maternal inheritance,
•Applies to the genes in mitochondrial DNA
•As only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial mutations to their children.
||Leber hereditary optic neuropathy (LHON)
|}
Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also.
Example- heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.<ref>https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns</ref>
</div>
==Defective genital organs and supportive structures in mother ==
<div style="text-align:justify;">
Excellence of uterus/female reproductive tract (kshetra) is an essential factor for the normal growth and development of fetus. The accessory structures like placenta (apara) and umbilical cord(nabhi nadi) also play a great role in nourishment of fetus(garbha poshana). Any defect in these structural entities certainly affects the fetus and may lead to some congenital deformities.
</div>
===Environmental/ Epigenetic Factors===
<div style="text-align:justify;">
'''Role of time factor (kala)'''
The term time (kala) can be interpreted in many ways.
*Seasonal variation which is divided in to two in the basic manner as northward movement of the sun (adana kala) and southward movement of the sun (visarga kala) and their effects on the growth and development of fetus may be considered here.
*'''Age of the parents:''' The minimum age for achievement of successful conception is described as twenty five for male and sixteen for female. Since both the partners are full of valour and vigor at this age, the born child also possesses these qualities. [Su. Sa. Sutra Sthana 35/13]. It is recommended that very young and very old women should not be impregnated. [Cha. Sa. [[Sharira Sthana]] 8/6]. The consequences of not following the recommended age of parents include intrauterine death of fetus, neonatal death, ill health and deformed body parts of the child.[A. S. Sharira Sthana 1/5]
Pregnancy in very young age causes premature births. Aneuploidy (abnormal chromosome number) is the principal hereditary abnormality associated with either parental age. Risk increases logarithmically with advancing parental age; at age 40, the risk is about 2%. In Down's syndrome, maternal age is a primary factor, but occasionally the father can be implicated.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
*'''Day of sexual intercourse:''' As per the menstrual cycle of the women, proliferative phase (rutukala) is considered as the most fertile period. During the bleeding phase of menstrual cycle, coitus is prohibited. Acharya sushruta has explained the consequences of coitus in first three days of menstrual cycle as below.[Su. Sa .Sharira sthana 2/31]
{| class="wikitable"
|-
!Menstrual Day!! Effect on the child
|-
|First || No pregnancy or pseudocyesis, intrauterine death or death immediately after delivery
|-
|Second ||Either abortion or intrauterine death or death immediately after birth or within a few days of delivery
|-
|Third ||Deficient or defective body parts and short lived.
|}
</div>
===Psychological and behavioral factors===
<div style="text-align:justify;">
It is mentioned that pleasant state of mind is the prime requirement for conception. [Cha. Sa. [[Sutra Sthana]] 25/40]
*'''Contra indications for sexual intercourse'''
It is recommended to avoid sexual intercourse when either of the partners is suffering from hunger, thirst etc. or frightened, averse, sorrow-stricken, angry, not in good relationship with the partner, not having desire for sex or having excessive desire for sex. These mental status during the act of coitus adversely affect the conception as well as the quality of offspring. [Cha. Sa. [[Sharira Sthana]] 8/17]
*N'''on observance of regimens during menstruation (Rajaswala Paricharya)'''
There are some activities which are recommended to be avoided during bleeding phase of menstrual cycle and the after-effect of non-observance of these regimens by the lady is said to be reflected on the future progeny. [Su. Sa. Sharira Sthana 2/25]
{| class="wikitable"
|-
!Don’ts during menstruation !! Possible defects/abnormalities in future child
|-
|Sleeping during day time(divaswapna)|| Over sleepy
|-
|Use of collyrium (anjana) ||Blind
|-
|Weeping / Crying ( rodana)|| Visual disturbance
|-
|Massage (abhyanga) || Skin disorders
|-
|Nail pairing (nakhakartana) || Deformity in nails
|-
|Chasing / Running (dhavana)|| Reckless, indecisive
|-
|Excessive Laughing || Discoloration (black) of teeth, lips and tongue
|-
|Indulging in long conversations || Over talkative nature
|-
|Listening of different kinds of loud voices ||Deaf
|-
|Excessive combing of hairs || Bald
|-
|Nasal instillation of medicine (nasya) || Menstrual abnormalities (in female child)
|-
|Excessive Exposure to draughts and exertion || Insanity
|}
</div>
===Spiritual factors: ===
*Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]
*Bad deeds of previous life(atma –karma dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36]
==During Antenatal Period==
===Physical Factors===
<div style="text-align:justify;">
'''Role of [[panchamahabhuta]]'''
In embryo (garbha), division (vibhajana), metabolism (pachana), moistening (kledana), solidification (samhanana) and increase in size (vivardhana) are done by [[vaju]], [[agni]], [[jala]], [[prithvi]], and [[akasha]] respectively.[Su.Sa. Sharira Sthana 5/3]
Acharya Bhela specifically mentions the role of [[vayu]] and [[akasha]] in the birth of a child having abnormal anatomy.[ Bhela Sa Sharira Sthana 3/15-16].
'''Role of [[dosha]]'''
Vitiation of all the three doshas during pregnancy is the ultimate cause of congenital disorders. [A. H. Sharira Sthana 1/6] Among them [[vata]] is having the main role as it is the controller of all kind of activities and especially the anatomical formation (akruti)of embryo(garbha) is brought out by [[vayu]][Cha. Sa. [[Sutra sthana]] 12/8], [Su. Sa. Sharira Sthana 2/50-52]
'''Diet and life style of the mother:'''
Congenital abnormalities due to use of diet or mode of life described under the factors adversely affecting the pregnancy outcome (garbhopaghatakara bhavas) are mentioned in the table. [Cha. Sa. [[Sharira Sthana]] 8/21]
{| class="wikitable"
|-
!Dietetics or mode of life !! Effect on the fetus or child
|-
|Squatting or sitting in abnormal position, suppression of urges of defecation, urination or flatus, improper and excessive exercise, use of pungent, hot edibles or less quantity of food || Intrauterine death of fetus /premature delivery /abortion / growth restriction of fetus.
|-
|Trauma and compression (on lower abdomen), peeping or falling in deep pit or well, riding in jerking vehicle, listening to unpleasant words.
||Premature delivery or abortion.
|-
|Sleeping in supine position with stretched extremities.||Umbilical cord encircles the neck
|-
|Sleeping uncovered in open place or night walking ||Insane or extravagant child
|-
|Oral or physical strife or pugnacious ||Epileptic child
|-
|Over indulgence in sex || Deformed, impudent or lazy and henpecked
|-
|Always distressed or grieved || Poltroon, slender, short lived, having less digestive power etc.
|-
|Psychologically malevolent or constantly worried.||Nature of troubling others, jealous and henpecked.
|-
|Thief or robber ||Industrious, spiteful, idle
|-
|Intolerant || Furious, deceitful, insidious, calumnious.
|-
|Over sleepy || Sleepy, ignorant and possess less digestive power
|-
|Using wine daily ||Over thirsty, short memory and flicking mind.
|-
|Often use of meat of iguana.||Suffers from bladder stone, gravel or slow stream of urine.
|-
|Often use of hog’s meat(pork) ||Red eyes, rough body hairs, and obstructed breathing or snoring.
|-
|Daily use of fish || Fixed eyes or delayed blinking of the eye lids
|-
|Excessive use of sweet articles daily(except milk)|| Suffers from urinary disorders and diabetes mellitus (prameha), obese or dumb child
|-
|Excessive use of sour articles daily || Suffers from bleeding disorders (raktapitta),skin and eye disorders
|-
|Excessive use of salty articles daily || Early wrinkling ,graying of hairs and baldness
|-
|Excessive use of pungent articles daily || Weak, possess less quantity of semen(shukra) , infertile
|-
|Excessive use of bitter articles daily || Suffers from emaciation or edema, weak , scraggy and less digestive power
|-
|Excessive use of astringent articles daily || Swarthy, suffers from flatulence (anaha) and eructation (udavarta)
|}
Acharya Vagbhata mentions the effect of diet vitiating particular [[dosha]] taken by the mother. [A. S. Sharira Sthana 2/54-56]
{| class="wikitable"
|-
!Type of Diet !! Effect on Child
|-
|[[Vata]] vitiating diet || Makes the child deaf, dumb, idiot, having hoarse or nasal voice, lame, humpbacked, dwarf, possessing less or more number of body parts, other abnormalities arising due to [[vata]].
Ex- Contracted ear pinna(kuchikarnaka)
|-
|[[Pitta]] vitiating diet|| Baldness, premature graying of hairs, absence of hair on face, tawny colour of skin, nail and hairs, other abnormalities of pitta
|-
|[[Kapha]] vitiating diet || skin disorders(kushta and kilasa),congenital presence of teeth
vitiligo (shwitra)* and anaemia (pandu)*
Tridosha vitiating diet Mixed presentation of all these abnormalities.
|}
*[A. Hr. Sharira Sthana 1/48]
'''Effect of maternal diseases upon the fetus'''
Whichever the part of the pregnant lady’s body is afflicted either by vitiation of [[doshas ]]or by trauma, the identical part of the fetal body also suffers from the same trouble.[ Su Sa Sharira Sthana 3/17]
Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.<ref>Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med. 2018;31(13):1798‐1806. doi:10.1080/14767058.2017.1326904</ref>
'''Environmental/Epigenetic Factors:'''
*Time factor(kala dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Nutritional and intrauterine environment [Cha. Sa. [[Sharira Sthana]] 2/29]
'''Psychological and behavioral Factors:'''
*Improper diet and lifestyle of mother(ahara –vihara dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
*Not satisfying the longings of pregnant lady(douhruda)[Su. Sa. Sharira Sthana 2/50-52]
*The psychological and cognitive development of fetus depends on the psychological status of mother and father.[ A. S. Sharira Sthana 1/66]
'''Effect of non-fulfillment of longings/desires of mother during pregnancy (dauhruda vimanana):'''
The desires of the fetus are expressed through mother and her longings (dauhruda) should always be fulfilled. Any negligence or non-fulfillment can cause abnormalities or even death of the fetus. Suppression of desires vitiates [[vayu]], which moves in the body of fetus and produces various diseases, abnormalities or even death. [Cha. Sa. [[Sharira Sthana]] 4/25].
Acharya Sushruta opines that non-fulfillment of desires produces the fetus which is hump-backed, crooked armed and legged, idiot, dwarf, having disfigured eyes or there is absence of eyes. Non fulfillment can harm both the mother and the fetus, specially suppression of desires related to specific sensory or motor organ (indriya) produces abnormality of corresponding sensory or motor organ (indriya)of the fetus.[Su. Sa. Sharira Sthana 3/18-21].
Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with Congenital Heart Diseases (CHD).<ref>Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019;124(4):618‐626. doi:10.1016/j.amjcard.2019.05.023</ref>, <ref>Keir M, Ebert P, Kovacs AH, et al. Neurocognition in Adult Congenital Heart Disease: How to Monitor and Prevent Progressive Decline. Can J Cardiol. 2019;35(12):1675‐1685. doi:10.1016/j.cjca.2019.06.020</ref>
</div>
==During Intra-partum Period==
<div style="text-align:justify;">
*'''Consequences of inappropriate bearing down efforts by the mother:'''
It is advised not to bear down in the absence of true labour pains. If bearing down efforts are made in the absence of true labour pains, deafness, dumbness, dislocation of mandible, diseases of head and neck, cough, dyspnoea, emaciation and abnormal location of the body-parts of the child are likely to occur. [ Su. Sa. Sharira Sthana 10/9]
</div>
==Current researches ==
<div style="text-align:justify;">
'''Contemporary approach:'''
As per modern embryology, susceptibility to teratogenesis depends on the genotype of the conceptus and the manner in which this genetic composition interacts with the environment.
The maternal genome is also important with respect to drug metabolism, resistance to infection and other biochemical and molecular processes that affect the conceptus. Susceptibility to teratogens varies with the developmental stage at the time of exposure. The most sensitive period for inducing birth defects is the third to eight weeks of gestation, the period of embryogenesis. <ref>Prof.Hari Hirdya Awasthi,Dr.Mohd.Ashraf Khan, Garbha sarira, Chaukhambha Orientalia. Varanasi; 1996. First edition.pg.136</ref>
There are three phases of intrauterine growth. Zygote, embryo, and fetus.
1. The zygote phase — Period-I (weeks 1 – 2 after fertilization) consists of cell division and implantation of this cell mass in the uterus. During this phase, teratogen would cause loss of the conceptus
2. The embryonic phase or Period II (weeks 3 – 8) most of the organ systems develop. This is the most vulnerable for major congenital malformations to develop.
3. The fetal phase / Period III (weeks 9 – 38) further growth and elaboration of the organ systems takes place. During this phase various factors can result in minor or not so severe defects.
Birth defects occur due to three main reasons i.e,abnormal formation of tissues, abnormal forces on normal tissues or destruction of normal tissues. Some of these defects may have a cascade effect and result in a group of related anomalies or multiple anomalies (syndromes). <ref>Dhiman K, Kumar A, Dhiman KS. Shad Garbhakara Bhavas vis-a-vis congenital and genetic disorders. Ayu. 2010;31(2):175‐184. doi:10.4103/0974-8520.72384</ref>
Now a day, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the emerging as a treatment of choice for a variety of congenital disorders.<ref>Faraci M, Giardino S, Bagnasco F, et al. Allogeneic hematopoietic stem cell transplantation in congenital disorders: A single-center experience. Pediatr Transplant. 2017;21(6):10.1111/petr.12997. doi:10.1111/petr.12997</ref>
</div>
===Abbreviations ===
<div style="text-align:justify;">
Sa. = Samhita, Cha. = Charak, Su. = Sushruta, Ka. = Kashyapa, A. = Ashtanga, Hr. = Hridaya, S. = Sangraha,
</div>
==More information ==
[[ Atulyagotriya Sharira]], [[Khuddika Garbhavakranti Sharira]], [[Mahatigarbhavakranti Sharira]], [[ Jatisutriya Sharira ]]
This article is in online review process. Your suggestions or review remarks are important for us. You can [[Special:ContactMe|Submit your review remarks/suggestions here.]]
==References==
|title=Congenital Disorders
|titlemode=append
|keywords=Congenital disorders,beejadosha,beejabhaga,beejabhaga avayava, genetics, shad garbhakara bhava, garbha, Ayurveda, Indian system of medicine, charak samhita.
|description=Sharira / garbha / congenital disorders
|image=http://www.carakasamhitaonline.com/mediawiki-1.32.1/resources/assets/ogimgs.jpg
|image_alt=charak samhita
|type=article
}}
<div style="text-align:justify;">
The congenital disorders refer to the medical conditions that are present at birth. [[Ayurveda]] groups the congenital disorders in he category of sahaja and jataja vyadhi. [A.S.] These can be the result of genetic abnormalities, the unfavorable intrauterine environment or may be due to some unknown factors. A congenital disorder may be recognized prenatally (before birth), at birth, or sometimes many years later.
Ayurveda emphasizes the proper preparation of the parents as the essential prerequisite for a healthy progeny and prevention of congenital disorders.
</div>
{{Infobox
|title = Contributors
|label1 = Section/Chapter/topic
|data1 = [[Sharira]] /[[Garbha]]/ [[Congenital disorders]]
|label2 = Author
|data2 = Blinded
|label3 = Reviewed by
|data3 = Open for review till November 05, 2020 [[Special:ContactMe|Submit your review remarks/suggestions]]
|label4 = Affiliations
|data4 = Blinded
|label5 = Correspondence email:
|data5 = carakasamhita@gmail.com
|label6 = Date of publication:
|data6 = October 04, 2020
}}
==Causes of congenital disorders==
<div style="text-align:justify;">
The causative factors for congenital disorders can be analyzed in physical, mental and spiritual dimensions.
All these causes can be attributed as a defect in any of the six factors (shad bhava) which are the sources of origin of embryo (garbha).
The six factors are,
[[file:Capture_1.PNG|400px|'''Image 1:Six sources of embryo'''|thumb]]
1. Maternal (matruja)
2. Paternal (pitruja)
3. Soul (atmaja)
4. Mind (satvaja)
5. Wholesomeness (satmyaja)
6. Nutritional component (rasaja)
The minor defects will lead to the congenital abnormalities of the fetus and the major defects lead to abortion or the death of the fetus. [Cha. Sa. [[Sharira Sthana]] 4/28-29]
These causes can be broadly classified in relation to
1) Preconception period
2) Antenatal period
3) Intra-partum period
[[file:Capture_2.PNG|500px|'''Image 2:Causes of congenital disorders'''|thumb]]
</div>
== During Preconception Period==
<div style="text-align:justify;">
The selection of a partner with desirable qualities is the prime step in the prevention of congenital disorders.
The following are the guidelines for selection of an ideal partner as per Ayurveda.
*The partner should be belonging to a different clan(gotra).[ Cha. Sa. [[Sharira Sthana]] 2/3]
*Consanguinity should be avoided.
*Should not have any hereditary disorders or familial traits.
*Should not be suffering from any contagious diseases.
*Should possess attractive physical characters.
*Should not be handicapped.
*Should be healthy and follow good health habits.
*Should keep morality and good conduct. [A. S. Shrira Sthana 1/3]
</div>
===Physical Factors ===
<div style="text-align:justify;">
*Abnormalities of sperm and ovum (beeja) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Defective reproductive physiology (shukra dhatu)of parents.[Cha. Sa. [[Sutra Sthana]] 28/18]
*Defective reproductive anatomy of parents (ashaya dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
*Vitiation of Tridosha[A. H. Sharira Sthana 1/6]
'''Role of reproductive physiology (shukra dhatu) of parents'''
The abnormality (vikruti)or physical deformity (virupata) in the fetus is mentioned among the diseases of vitiated reproductive tissue ([[shukra dhatu]])especially when the vitiated [[vata]] getting lodged in it.[Cha Sa [[Sutra Sthana]] 28/28], [Cha. Sa. [[Chikitsa Sthana]] 28/34]
'''Abnormalities in gamates (beeja dosha)'''
The genetic factors like defects in chromosomes or genes are explained in Ayurvedic classics in the concept of chromosomes/gene (beejabhaga) and genetic material-DNA (beejabhaga avayava). It is explained on the basis of maternal (matruja) and paternal (pitruja) factors.
If the genes in the chromosomes (beejabhaga) which are responsible for the formation of a particular organ get vitiated or mutated (vikruta), this will result in the improper formation of the respective organ.[Cha. Sa. [[Sharira Sthana]] 3/17]
When a woman gets conceived in a state that her ovum (shonita) and uterus (garbhashaya) were not completely vitiated but simply afflicted by the circulating aggravated [[doshas]] because of her improper regimens, one or many of the organs of the fetus which derive from the maternal source get deformed. This is the explanation given for the congenital deformities in organs of maternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30]
The yoni vyapad namely “shandi” is an example for the abnormalities in gametes (beeja dushti) leading to the deformity of anatomical structures (ashaya) in fetus due to affliction of [[vata]] leading to the female progeny with underdeveloped primary and secondary sexual characters [Cha. Sa. [[Chikitsa Sthana]] 30/34-35] which is generally correlated by many scholars with the chromosomal disorder known as “turner syndrome”.
Similarly the defect in the sperm (shukra) in various levels causes deformities related to paternal origin. [Cha. Sa. [[Sharira Sthana]] 4/30-31]
{| class="wikitable"
|-
! !! Vitiated factor !! Outcome !! Possible modern co-relation
|-
|'''Female''' ||Genes in maternal chromosomes(beejabhaga of shonita), responsible for the formation of uterus (garbhashaya) || female not capable of reproduction (vandhya) || Agenesis of uterus/adnexa leading to infertility
|-
| ||Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya)|| can conceive, but deliver only dead fetuses (putipraja) || Recurrent pregnancy loss due to genetic disorders.
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of maternal chromosomes responsible for the production of uterus (garbhashaya) as well as those responsible for developing feminine characters || incomplete female (varta) || Gonadal dysgenesis Eg:-
Turner Syndrome,
Swyer Syndrome
|-
| '''Male''' ||Genes in paternal chromosomes(beejabhaga of shukra), responsible for the production of sperms(shukra) ||sterile male (vandhya) || Male Infertility due to gonadal agenesis
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra)|| offspring dies after delivery (putipraja) || Recurrent pregnancy loss due to genetic disorders
|-
| || Some of the DNA bases(beejabhaga avayva) in the genes of paternal chromosomes responsible for the production of sperms(shukra) as well as those responsible for developing masculine characters.||incomplete male (trinaputrika) || Gonadal dysgenesis
|}
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<div style="text-align:justify;">
A history of either several spontaneous abortions or offspring with multiple anomalies is an indication for chromosome analyses on both parents. Among known gene disorders, the severity of X-linked disorders differs in males and females. Gene mutations originate more frequently among males, and the frequency increases with advancing paternal age, particularly implicated are the Marfan syndrome, achondroplasia, hemophilia A, and the Lesch-Nyhan syndrome.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
Some genetic conditions are caused by mutations in only a single gene. These conditions are usually inherited in different patterns, depending on the type of gene.
{| class="wikitable"
|-
!Pattern of inheritance !! Description !! Example
|-
| X-linked dominant ||•By mutations in genes on the X chromosome.
•In females, a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
•In males, a mutation in the only copy of the gene in each cell causes the disorder.
•In most cases, males experience more severe symptoms of the disorder than females.
||fragile X syndrome
|-
|X-linked recessive || •Caused by mutations in genes on the X chromosome.
•In females, a mutation would have to occur in both copies of the gene to cause the disorder.
•In males, one altered copy of the gene in each cell is sufficient to cause the condition.
•males are affected by X-linked recessive disorders much more frequently than females.
||hemophilia, Fabry disease
|-
|Y-linked || •Caused by mutations in genes on the Y chromosome.
•So, the mutation can only be passed from father to son.
||Y chromosome infertility, some cases of Swyer syndrome
|-
||Autosomal dominant || •One mutated copy of the gene in each cell is sufficient for a person to be affected.
•An affected person can inherit the condition from an affected parent.
•the condition may result from a new mutation in the gene (e, without any family history)
||Huntington disease, Marfan syndrome
|-
||Autosomal recessive ||Both copies of the gene in each cell should have mutations.
•Typically not seen in every generation of an affected family.
||cystic fibrosis, sickle cell disease
|-
||Codominant || •Two different versions (alleles) of a gene are expressed.
•Both alleles influence the genetic trait or determine the characteristics of the genetic condition.
|| ABO blood group, alpha-1 antitrypsin deficiency
|-
|Mitochondrial ||•Also known as maternal inheritance,
•Applies to the genes in mitochondrial DNA
•As only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial mutations to their children.
||Leber hereditary optic neuropathy (LHON)
|}
Many health conditions are caused by the combined effects of multiple genes which are known as polygenic. It may be by the interactions between genes and the environment also.
Example- heart disease, type 2 diabetes, schizophrenia, certain types of cancer etc.<ref>https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns</ref>
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==Defective genital organs and supportive structures in mother ==
<div style="text-align:justify;">
Excellence of uterus/female reproductive tract (kshetra) is an essential factor for the normal growth and development of fetus. The accessory structures like placenta (apara) and umbilical cord(nabhi nadi) also play a great role in nourishment of fetus(garbha poshana). Any defect in these structural entities certainly affects the fetus and may lead to some congenital deformities.
</div>
===Environmental/ Epigenetic Factors===
<div style="text-align:justify;">
'''Role of time factor (kala)'''
The term time (kala) can be interpreted in many ways.
*Seasonal variation which is divided in to two in the basic manner as northward movement of the sun (adana kala) and southward movement of the sun (visarga kala) and their effects on the growth and development of fetus may be considered here.
*'''Age of the parents:''' The minimum age for achievement of successful conception is described as twenty five for male and sixteen for female. Since both the partners are full of valour and vigor at this age, the born child also possesses these qualities. [Su. Sa. Sutra Sthana 35/13]. It is recommended that very young and very old women should not be impregnated. [Cha. Sa. [[Sharira Sthana]] 8/6]. The consequences of not following the recommended age of parents include intrauterine death of fetus, neonatal death, ill health and deformed body parts of the child.[A. S. Sharira Sthana 1/5]
Pregnancy in very young age causes premature births. Aneuploidy (abnormal chromosome number) is the principal hereditary abnormality associated with either parental age. Risk increases logarithmically with advancing parental age; at age 40, the risk is about 2%. In Down's syndrome, maternal age is a primary factor, but occasionally the father can be implicated.<ref>Congenital deformities and chromosomal disorders: maternal versus paternal age. Fertil Steril. 1977;28(8):888. doi:10.1016/s0015-0282(16)42748-2</ref>
*'''Day of sexual intercourse:''' As per the menstrual cycle of the women, proliferative phase (rutukala) is considered as the most fertile period. During the bleeding phase of menstrual cycle, coitus is prohibited. Acharya sushruta has explained the consequences of coitus in first three days of menstrual cycle as below.[Su. Sa .Sharira sthana 2/31]
{| class="wikitable"
|-
!Menstrual Day!! Effect on the child
|-
|First || No pregnancy or pseudocyesis, intrauterine death or death immediately after delivery
|-
|Second ||Either abortion or intrauterine death or death immediately after birth or within a few days of delivery
|-
|Third ||Deficient or defective body parts and short lived.
|}
</div>
===Psychological and behavioral factors===
<div style="text-align:justify;">
It is mentioned that pleasant state of mind is the prime requirement for conception. [Cha. Sa. [[Sutra Sthana]] 25/40]
*'''Contra indications for sexual intercourse'''
It is recommended to avoid sexual intercourse when either of the partners is suffering from hunger, thirst etc. or frightened, averse, sorrow-stricken, angry, not in good relationship with the partner, not having desire for sex or having excessive desire for sex. These mental status during the act of coitus adversely affect the conception as well as the quality of offspring. [Cha. Sa. [[Sharira Sthana]] 8/17]
*N'''on observance of regimens during menstruation (Rajaswala Paricharya)'''
There are some activities which are recommended to be avoided during bleeding phase of menstrual cycle and the after-effect of non-observance of these regimens by the lady is said to be reflected on the future progeny. [Su. Sa. Sharira Sthana 2/25]
{| class="wikitable"
|-
!Don’ts during menstruation !! Possible defects/abnormalities in future child
|-
|Sleeping during day time(divaswapna)|| Over sleepy
|-
|Use of collyrium (anjana) ||Blind
|-
|Weeping / Crying ( rodana)|| Visual disturbance
|-
|Massage (abhyanga) || Skin disorders
|-
|Nail pairing (nakhakartana) || Deformity in nails
|-
|Chasing / Running (dhavana)|| Reckless, indecisive
|-
|Excessive Laughing || Discoloration (black) of teeth, lips and tongue
|-
|Indulging in long conversations || Over talkative nature
|-
|Listening of different kinds of loud voices ||Deaf
|-
|Excessive combing of hairs || Bald
|-
|Nasal instillation of medicine (nasya) || Menstrual abnormalities (in female child)
|-
|Excessive Exposure to draughts and exertion || Insanity
|}
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===Spiritual factors: ===
*Sinful acts and atheistic attitude of parents [Su. Sa Sharira Sthana 2/50-52]
*Bad deeds of previous life(atma –karma dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Unrighteousness(adharma) [Su. Sa. Sharira Sthana 3/36]
==During Antenatal Period==
===Physical Factors===
<div style="text-align:justify;">
'''Role of [[panchamahabhuta]]'''
In embryo (garbha), division (vibhajana), metabolism (pachana), moistening (kledana), solidification (samhanana) and increase in size (vivardhana) are done by [[vaju]], [[agni]], [[jala]], [[prithvi]], and [[akasha]] respectively.[Su.Sa. Sharira Sthana 5/3]
Acharya Bhela specifically mentions the role of [[vayu]] and [[akasha]] in the birth of a child having abnormal anatomy.[ Bhela Sa Sharira Sthana 3/15-16].
'''Role of [[dosha]]'''
Vitiation of all the three doshas during pregnancy is the ultimate cause of congenital disorders. [A. H. Sharira Sthana 1/6] Among them [[vata]] is having the main role as it is the controller of all kind of activities and especially the anatomical formation (akruti)of embryo(garbha) is brought out by [[vayu]][Cha. Sa. [[Sutra sthana]] 12/8], [Su. Sa. Sharira Sthana 2/50-52]
'''Diet and life style of the mother:'''
Congenital abnormalities due to use of diet or mode of life described under the factors adversely affecting the pregnancy outcome (garbhopaghatakara bhavas) are mentioned in the table. [Cha. Sa. [[Sharira Sthana]] 8/21]
{| class="wikitable"
|-
!Dietetics or mode of life !! Effect on the fetus or child
|-
|Squatting or sitting in abnormal position, suppression of urges of defecation, urination or flatus, improper and excessive exercise, use of pungent, hot edibles or less quantity of food || Intrauterine death of fetus /premature delivery /abortion / growth restriction of fetus.
|-
|Trauma and compression (on lower abdomen), peeping or falling in deep pit or well, riding in jerking vehicle, listening to unpleasant words.
||Premature delivery or abortion.
|-
|Sleeping in supine position with stretched extremities.||Umbilical cord encircles the neck
|-
|Sleeping uncovered in open place or night walking ||Insane or extravagant child
|-
|Oral or physical strife or pugnacious ||Epileptic child
|-
|Over indulgence in sex || Deformed, impudent or lazy and henpecked
|-
|Always distressed or grieved || Poltroon, slender, short lived, having less digestive power etc.
|-
|Psychologically malevolent or constantly worried.||Nature of troubling others, jealous and henpecked.
|-
|Thief or robber ||Industrious, spiteful, idle
|-
|Intolerant || Furious, deceitful, insidious, calumnious.
|-
|Over sleepy || Sleepy, ignorant and possess less digestive power
|-
|Using wine daily ||Over thirsty, short memory and flicking mind.
|-
|Often use of meat of iguana.||Suffers from bladder stone, gravel or slow stream of urine.
|-
|Often use of hog’s meat(pork) ||Red eyes, rough body hairs, and obstructed breathing or snoring.
|-
|Daily use of fish || Fixed eyes or delayed blinking of the eye lids
|-
|Excessive use of sweet articles daily(except milk)|| Suffers from urinary disorders and diabetes mellitus (prameha), obese or dumb child
|-
|Excessive use of sour articles daily || Suffers from bleeding disorders (raktapitta),skin and eye disorders
|-
|Excessive use of salty articles daily || Early wrinkling ,graying of hairs and baldness
|-
|Excessive use of pungent articles daily || Weak, possess less quantity of semen(shukra) , infertile
|-
|Excessive use of bitter articles daily || Suffers from emaciation or edema, weak , scraggy and less digestive power
|-
|Excessive use of astringent articles daily || Swarthy, suffers from flatulence (anaha) and eructation (udavarta)
|}
Acharya Vagbhata mentions the effect of diet vitiating particular [[dosha]] taken by the mother. [A. S. Sharira Sthana 2/54-56]
{| class="wikitable"
|-
!Type of Diet !! Effect on Child
|-
|[[Vata]] vitiating diet || Makes the child deaf, dumb, idiot, having hoarse or nasal voice, lame, humpbacked, dwarf, possessing less or more number of body parts, other abnormalities arising due to [[vata]].
Ex- Contracted ear pinna(kuchikarnaka)
|-
|[[Pitta]] vitiating diet|| Baldness, premature graying of hairs, absence of hair on face, tawny colour of skin, nail and hairs, other abnormalities of pitta
|-
|[[Kapha]] vitiating diet || skin disorders(kushta and kilasa),congenital presence of teeth
vitiligo (shwitra)* and anaemia (pandu)*
Tridosha vitiating diet Mixed presentation of all these abnormalities.
|}
*[A. Hr. Sharira Sthana 1/48]
'''Effect of maternal diseases upon the fetus'''
Whichever the part of the pregnant lady’s body is afflicted either by vitiation of [[doshas ]]or by trauma, the identical part of the fetal body also suffers from the same trouble.[ Su Sa Sharira Sthana 3/17]
Maternal autoantibodies can cross the placenta and cause fetal damage. For example, fetal thyroid goiter can be developed in response to maternal Graves' disease.<ref>Panaitescu AM, Nicolaides K. Maternal autoimmune disorders and fetal defects. J Matern Fetal Neonatal Med. 2018;31(13):1798‐1806. doi:10.1080/14767058.2017.1326904</ref>
'''Environmental/Epigenetic Factors:'''
*Time factor(kala dosha) [Cha. Sa. [[Sharira Sthana]] 2/29]
*Nutritional and intrauterine environment [Cha. Sa. [[Sharira Sthana]] 2/29]
'''Psychological and behavioral Factors:'''
*Improper diet and lifestyle of mother(ahara –vihara dosha)[Cha. Sa. [[Sharira Sthana]] 2/29]
*Not satisfying the longings of pregnant lady(douhruda)[Su. Sa. Sharira Sthana 2/50-52]
*The psychological and cognitive development of fetus depends on the psychological status of mother and father.[ A. S. Sharira Sthana 1/66]
'''Effect of non-fulfillment of longings/desires of mother during pregnancy (dauhruda vimanana):'''
The desires of the fetus are expressed through mother and her longings (dauhruda) should always be fulfilled. Any negligence or non-fulfillment can cause abnormalities or even death of the fetus. Suppression of desires vitiates [[vayu]], which moves in the body of fetus and produces various diseases, abnormalities or even death. [Cha. Sa. [[Sharira Sthana]] 4/25].
Acharya Sushruta opines that non-fulfillment of desires produces the fetus which is hump-backed, crooked armed and legged, idiot, dwarf, having disfigured eyes or there is absence of eyes. Non fulfillment can harm both the mother and the fetus, specially suppression of desires related to specific sensory or motor organ (indriya) produces abnormality of corresponding sensory or motor organ (indriya)of the fetus.[Su. Sa. Sharira Sthana 3/18-21].
Various studies indicate that mental illness and neurocognitive decline are prevalent co-morbidities in the adolescent and adult population with Congenital Heart Diseases (CHD).<ref>Khanna AD, Duca LM, Kay JD, Shore J, Kelly SL, Crume T. Prevalence of Mental Illness in Adolescents and Adults With Congenital Heart Disease from the Colorado Congenital Heart Defect Surveillance System. Am J Cardiol. 2019;124(4):618‐626. doi:10.1016/j.amjcard.2019.05.023</ref>, <ref>Keir M, Ebert P, Kovacs AH, et al. Neurocognition in Adult Congenital Heart Disease: How to Monitor and Prevent Progressive Decline. Can J Cardiol. 2019;35(12):1675‐1685. doi:10.1016/j.cjca.2019.06.020</ref>
</div>
==During Intra-partum Period==
<div style="text-align:justify;">
*'''Consequences of inappropriate bearing down efforts by the mother:'''
It is advised not to bear down in the absence of true labour pains. If bearing down efforts are made in the absence of true labour pains, deafness, dumbness, dislocation of mandible, diseases of head and neck, cough, dyspnoea, emaciation and abnormal location of the body-parts of the child are likely to occur. [ Su. Sa. Sharira Sthana 10/9]
</div>
==Current researches ==
<div style="text-align:justify;">
'''Contemporary approach:'''
As per modern embryology, susceptibility to teratogenesis depends on the genotype of the conceptus and the manner in which this genetic composition interacts with the environment.
The maternal genome is also important with respect to drug metabolism, resistance to infection and other biochemical and molecular processes that affect the conceptus. Susceptibility to teratogens varies with the developmental stage at the time of exposure. The most sensitive period for inducing birth defects is the third to eight weeks of gestation, the period of embryogenesis. <ref>Prof.Hari Hirdya Awasthi,Dr.Mohd.Ashraf Khan, Garbha sarira, Chaukhambha Orientalia. Varanasi; 1996. First edition.pg.136</ref>
There are three phases of intrauterine growth. Zygote, embryo, and fetus.
1. The zygote phase — Period-I (weeks 1 – 2 after fertilization) consists of cell division and implantation of this cell mass in the uterus. During this phase, teratogen would cause loss of the conceptus
2. The embryonic phase or Period II (weeks 3 – 8) most of the organ systems develop. This is the most vulnerable for major congenital malformations to develop.
3. The fetal phase / Period III (weeks 9 – 38) further growth and elaboration of the organ systems takes place. During this phase various factors can result in minor or not so severe defects.
Birth defects occur due to three main reasons i.e,abnormal formation of tissues, abnormal forces on normal tissues or destruction of normal tissues. Some of these defects may have a cascade effect and result in a group of related anomalies or multiple anomalies (syndromes). <ref>Dhiman K, Kumar A, Dhiman KS. Shad Garbhakara Bhavas vis-a-vis congenital and genetic disorders. Ayu. 2010;31(2):175‐184. doi:10.4103/0974-8520.72384</ref>
Now a day, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the emerging as a treatment of choice for a variety of congenital disorders.<ref>Faraci M, Giardino S, Bagnasco F, et al. Allogeneic hematopoietic stem cell transplantation in congenital disorders: A single-center experience. Pediatr Transplant. 2017;21(6):10.1111/petr.12997. doi:10.1111/petr.12997</ref>
</div>
===Abbreviations ===
<div style="text-align:justify;">
Sa. = Samhita, Cha. = Charak, Su. = Sushruta, Ka. = Kashyapa, A. = Ashtanga, Hr. = Hridaya, S. = Sangraha,
</div>
==More information ==
[[ Atulyagotriya Sharira]], [[Khuddika Garbhavakranti Sharira]], [[Mahatigarbhavakranti Sharira]], [[ Jatisutriya Sharira ]]
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==References==